Back to Search
Start Over
A Fetus with Hb Bart's Disease Due to Maternal Uniparental Disomy for Chromosome 16.
- Source :
-
Hemoglobin [Hemoglobin] 2016; Vol. 40 (1), pp. 66-9. Date of Electronic Publication: 2015 Nov 16. - Publication Year :
- 2016
-
Abstract
- We here report an unusual case of Hb Bart's (γ4) disease. Thalassemia screening of a couple showed that the wife was an α(0)-thalassemia (α(0)-thal) carrier and her husband's mean corpuscular volume (MCV) was normal. Chorionic villus sampling (CVS) was performed at 13 weeks' gestation for positive Down syndrome screening and chromosomal study of the cultured CVS showed a normal karyotype. Ultrasound examination at 22 weeks' gestation showed fetal cardiomegaly and raised middle cerebral artery peak systolic velocity. Cordocentesis confirmed fetal anemia and showed Hb Bart's disease. Multiplex gap-polymerase chain reaction (gap-PCR) for α-thal deletions on DNA extracted from the CVS showed the presence of a homozygous α(0)-thal - -(SEA) (Southeast Asian) deletion. The husband was found to be a carrier of the α(+)-thal -α(3.7) (rightward) deletion. Non paternity was excluded by fluorescent PCR using short tandem repeat (STR) markers on chromosomes 13, 18 and 21. A de novo terminal deletion of chromosome 16 was excluded by array comparative genomic hybridization (aCGH). Detection of uniparental disomy (UPD), using STR markers on chromosome 16 showed maternal uniparental isodisomy from 16pter to 16p13.2, and uniparental heterodisomy from 16p13.13 to 16qter.
- Subjects :
- Adult
Anemia genetics
Chorionic Villi Sampling
Comparative Genomic Hybridization
Cordocentesis
Female
Fetal Diseases genetics
Humans
Male
Pregnancy
Prenatal Diagnosis
Sequence Deletion
alpha-Thalassemia genetics
Anemia diagnosis
Chromosomes, Human, Pair 16 genetics
Fetal Diseases diagnosis
Hemoglobins, Abnormal genetics
Uniparental Disomy genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1532-432X
- Volume :
- 40
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Hemoglobin
- Publication Type :
- Academic Journal
- Accession number :
- 26574185
- Full Text :
- https://doi.org/10.3109/03630269.2015.1096283